Molecular testing for adolescent and young adult central nervous system tumors: A Canadian guideline.

The 2021 World Health Organization (WHO) classification of CNS tumors incorporates molecular signatures with histology and has highlighted differences across pediatric vs adult-type CNS tumors. However, adolescent and young adults (AYA; aged 15-39), can suffer from tumors across this spectrum and is a recognized orphan population that requires multidisciplinary, specialized care, and often through a transition phase. To advocate for a uniform testing strategy in AYAs, pediatric and adult specialists from neuro-oncology, radiation oncology, neuropathology, and neurosurgery helped develop this review and testing framework through the Canadian AYA Neuro-Oncology Consortium. We propose a comprehensive approach to molecular testing in this unique population, based on the recent tumor classification and within the clinical framework of the provincial health care systems in Canada. Contributions to the field: While there are guidelines for testing in adult and pediatric CNS tumor populations, there is no consensus testing for AYA patients whose care occur in both pediatric and adult hospitals. Our review of the literature and guideline adopts a resource-effective and clinically-oriented approach to improve diagnosis and prognostication of brain tumors in the AYA population, as part of a nation-wide initiative to improve care for AYA patients.

Outcomes of presumed malignant glioma treated without pathological confirmation: a retrospective, single-center analysis.

BACKGROUND: Tissue diagnosis is essential in the usual management of high-grade glioma. In rare circumstances, due to patient preference, performance status, comorbidities, or tumor location, biopsy is not feasible. Sometimes a biopsy is nondiagnostic. Many neuro-oncology clinics have patients like this, but these patients' outcomes and responses to treatment are not known. METHODS: We retrospectively reviewed records from adult patients diagnosed with presumed high-grade glioma of the brain without definitive pathology, diagnosed between 2004 and 2016. We recorded several clinical variables including date of first diagnostic imaging and date of death. RESULTS: We identified 61 patients and subclassified them to brainstem glioma (n = 32), supratentorial presumed glioblastoma (n = 24), presumed thalamic diffuse midline glioma (n = 2), gliomatosis cerebri (n = 2), and cerebellar glioma (n = 1). Most brainstem glioma patients had no biopsy because of tumor location. Supratentorial presumed glioblastoma patients had no biopsy predominantly because of comorbidities. Median survival, from first diagnostic imaging, was 3.2 months (95% CI: 2.9 to 6.3 months) in the supratentorial glioblastoma group and 18.5 months (95% CI: 13.0 to 44.1 months) in the brainstem group. Treatment with radiation or chemotherapy did not alter the median survival of the supratentorial glioblastoma group (hazard ratio 1.41, uncorrected P = .5). CONCLUSIONS: Patients with imaging diagnoses of high-grade glioma have similar, if not worse, survival than those with pathological confirmation. Based on these uncontrolled data, it is unclear how effective radiation or chemotherapy is in this population.

Generalized epilepsy in Baraitser-Winter cerebrofrontofacial syndrome.

•Baraitser-Winter cerebrofrontofacial syndrome (BWMS) is caused by actin gene mutations.•Key features of BWMS are ptosis, hypertelorism, iris colobomata, and mental retardation.•Generalized epilepsy is seen in half of those with BWMS.•Seizures in BWMS can be absence, myoclonic, tonic, or tonic-clonic.